Human Gene RPS26 (uc001sjf.3) Description and Page Index
  Description: Homo sapiens ribosomal protein S26 (RPS26), mRNA.
RefSeq Summary (NM_001029): This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.412434.1, SRR1163655.524780.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000646449.2/ ENSP00000496643.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr12:56,435,686-56,438,007 Size: 2,322 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr12:56,435,951-56,437,938 Size: 1,988 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:56,435,686-56,438,007)mRNA (may differ from genome)Protein (115 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=40S ribosomal protein S26;
INTERACTION: Q969E8:TSR2; NbExp=3; IntAct=EBI-353438, EBI-746981;
DISEASE: Defects in RPS26 are the cause of Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309]. It is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
SIMILARITY: Belongs to the ribosomal protein S26e family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RPS26
CDC HuGE Published Literature: RPS26
Positive Disease Associations: Diabetes Mellitus, Type 1 , Erythrocyte Count , Hemoglobins , Psoriasis
Related Studies:
  1. Diabetes Mellitus, Type 1
    Paul R Burton et al. Nature 2007, Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls., Nature. [PubMed 17554300]
  2. Erythrocyte Count
    , , . [PubMed 0]
  3. Hemoglobins
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: RPS26
Diseases sorted by gene-association score: diamond-blackfan anemia 10* (1241), rps26-related diamond-blackfan anemia* (500), diamond blackfan anemia 15 with mandibulofacial dysostosis* (231), diamond-blackfan anemia* (205), klippel-feil syndrome (10), cardiomyopathy, hypertrophic, 20 (9), macrocytic anemia (8), pierre robin syndrome (8), ureteral obstruction (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.98 RPKM in Small Intestine - Terminal Ileum
Total median expression: 143.46 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -77.82265-0.294 Picture PostScript Text
3' UTR -7.3069-0.106 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000892 - Ribosomal_S26e

Pfam Domains:
PF01283 - Ribosomal protein S26e

ModBase Predicted Comparative 3D Structure on P62854
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0003735 structural constituent of ribosome
GO:0005515 protein binding
GO:0045296 cadherin binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0002181 cytoplasmic translation
GO:0006412 translation
GO:0006413 translational initiation
GO:0006614 SRP-dependent cotranslational protein targeting to membrane
GO:0033119 negative regulation of RNA splicing

Cellular Component:
GO:0005622 intracellular
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005791 rough endoplasmic reticulum
GO:0005829 cytosol
GO:0005840 ribosome
GO:0015935 small ribosomal subunit
GO:0016020 membrane
GO:0022627 cytosolic small ribosomal subunit
GO:0042788 polysomal ribosome
GO:0070062 extracellular exosome
GO:0098556 cytoplasmic side of rough endoplasmic reticulum membrane

-  Descriptions from all associated GenBank mRNAs
  BC002604 - Homo sapiens ribosomal protein S26, mRNA (cDNA clone MGC:1963 IMAGE:3143099), complete cds.
AB056456 - Homo sapiens mRNA for ribosomal protein S26, partial cds.
BC105798 - Homo sapiens ribosomal protein S26, mRNA (cDNA clone MGC:104292 IMAGE:6726218), complete cds.
BC105276 - Homo sapiens ribosomal protein S26, mRNA (cDNA clone MGC:104291 IMAGE:4287636), complete cds.
BC070220 - Homo sapiens ribosomal protein S26, mRNA (cDNA clone MGC:88201 IMAGE:6388128), complete cds.
BC015832 - Homo sapiens ribosomal protein S26, mRNA (cDNA clone MGC:27148 IMAGE:4807004), complete cds.
X69654 - H.sapiens mRNA for ribosomal protein S26.
DQ895081 - Synthetic construct Homo sapiens clone IMAGE:100009541; FLH181204.01L; RZPDo839A12135D ribosomal protein S26 (RPS26) gene, encodes complete protein.
DQ896038 - Synthetic construct Homo sapiens clone IMAGE:100010498; FLH189763.01L; RZPDo839A1265D ribosomal protein S26 (RPS26) gene, encodes complete protein.
DQ896089 - Synthetic construct Homo sapiens clone IMAGE:100010549; FLH263634.01L; RZPDo839F0965D ribosomal protein S26 (RPS26) gene, encodes complete protein.
DQ891895 - Synthetic construct clone IMAGE:100004525; FLH181208.01X; RZPDo839A12136D ribosomal protein S26 (RPS26) gene, encodes complete protein.
DQ892791 - Synthetic construct clone IMAGE:100005421; FLH189767.01X; RZPDo839A1275D ribosomal protein S26 (RPS26) gene, encodes complete protein.
KJ892067 - Synthetic construct Homo sapiens clone ccsbBroadEn_01461 RPS26 gene, encodes complete protein.
X77770 - Homo sapiens RPS26 mRNA.
JD026251 - Sequence 7275 from Patent EP1572962.
JD019239 - Sequence 263 from Patent EP1572962.
BC013215 - Homo sapiens ribosomal protein S26, mRNA (cDNA clone IMAGE:3449032).
JD033885 - Sequence 14909 from Patent EP1572962.
DQ598409 - Homo sapiens piRNA piR-36475, complete sequence.
JD190475 - Sequence 171499 from Patent EP1572962.
JD122813 - Sequence 103837 from Patent EP1572962.
JD197549 - Sequence 178573 from Patent EP1572962.
JD324053 - Sequence 305077 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03010 - Ribosome

Reactome (by CSHL, EBI, and GO)

Protein P62854 (Reactome details) participates in the following event(s):

R-HSA-72676 eIF3 and eIF1A bind to the 40S subunit
R-HSA-72673 Release of 40S and 60S subunits from the 80S ribosome
R-HSA-72672 The 60S subunit joins the translation initiation complex
R-HSA-72619 eIF2:GTP is hydrolyzed, eIFs are released
R-HSA-72691 Formation of the 43S pre-initiation complex
R-HSA-156808 Formation of translation initiation complexes yielding circularized Ceruloplasmin mRNA in a 'closed-loop' conformation
R-HSA-157849 Formation of translation initiation complexes containing mRNA that does not circularize
R-HSA-72671 eIF5B:GTP is hydrolyzed and released
R-HSA-156907 Aminoacyl-tRNA binds to the ribosome at the A-site
R-HSA-2408529 Sec-tRNA(Sec):EEFSEC:GTP binds to 80S Ribosome
R-HSA-141691 GTP bound eRF3:eRF1 complex binds the peptidyl tRNA:mRNA:80S Ribosome complex
R-HSA-156915 Translocation of ribosome by 3 bases in the 3' direction
R-HSA-141671 Polypeptide release from the eRF3-GDP:eRF1:mRNA:80S Ribosome complex
R-HSA-156912 Peptide transfer from P-site tRNA to the A-site tRNA
R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex
R-HSA-927789 Formation of UPF1:eRF3 complex on mRNA with a premature termination codon and no Exon Junction Complex
R-HSA-1799332 Nascent polypeptide:mRNA:ribosome complex binds signal recognition particle (SRP)
R-HSA-156923 Hydrolysis of eEF1A:GTP
R-HSA-72621 Ribosomal scanning
R-HSA-72697 Start codon recognition
R-HSA-156823 Association of phospho-L13a with GAIT element of Ceruloplasmin mRNA
R-HSA-5333615 80S:Met-tRNAi:mRNA:SECISBP2:Sec-tRNA(Sec):EEFSEC:GTP is hydrolysed to 80S:Met-tRNAi:mRNA:SECISBP2:Sec and EEFSEC:GDP by EEFSEC
R-HSA-141673 GTP Hydrolysis by eRF3 bound to the eRF1:mRNA:polypeptide:80S Ribosome complex
R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex)
R-HSA-1799329 Signal peptidase hydrolyzes signal peptide from ribosome-associated nascent protein
R-HSA-1799330 The SRP receptor binds the SRP:nascent peptide:ribosome complex
R-HSA-1799326 Signal-containing nascent peptide translocates to endoplasmic reticulum
R-HSA-72689 Formation of a pool of free 40S subunits
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72695 Formation of the ternary complex, and subsequently, the 43S complex
R-HSA-72649 Translation initiation complex formation
R-HSA-72737 Cap-dependent Translation Initiation
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-156902 Peptide chain elongation
R-HSA-2408557 Selenocysteine synthesis
R-HSA-72764 Eukaryotic Translation Termination
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-72766 Translation
R-HSA-376176 Signaling by ROBO receptors
R-HSA-192823 Viral mRNA Translation
R-HSA-72702 Ribosomal scanning and start codon recognition
R-HSA-156827 L13a-mediated translation
R-HSA-72662 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
R-HSA-72613 Eukaryotic Translation Initiation
R-HSA-72312 rRNA processing
R-HSA-156842 Eukaryotic Translation Elongation
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-927802 Nonsense-Mediated Decay (NMD)
R-HSA-392499 Metabolism of proteins
R-HSA-422475 Axon guidance
R-HSA-168273 Influenza Viral RNA Transcription and Replication
R-HSA-8953854 Metabolism of RNA
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1266738 Developmental Biology
R-HSA-168255 Influenza Life Cycle
R-HSA-1430728 Metabolism
R-HSA-168254 Influenza Infection
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001029, NP_001020, P02383, P62854, P70394, Q06722, Q3MHD8, Q6IRY4, RS26_HUMAN
UCSC ID: uc001sjf.3
RefSeq Accession: NM_001029
Protein: P62854 (aka RS26_HUMAN)
CCDS: CCDS31832.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RPS26:
diamond-b (Diamond-Blackfan Anemia)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001029.3
exon count: 4CDS single in 3' UTR: no RNA size: 699
ORF size: 348CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 798.50frame shift in genome: no % Coverage: 97.57
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.